Table 2.
EPI-743 clinical trials.
| Patient Population | Age | Trial Design | Duration | Outcomes | Reference |
|---|---|---|---|---|---|
| Mitochondrial disease (n = 14) | 2–27 years | Open-label | 98–444 days | 11/12 survivors with clinical improvement; 3/11 partial relapse; 10/12 improvement in quality of life (NPMDS section IV); 2 deaths | [92] |
| LHON (n = 5) | 8–52 years | Open-label | 204–557 days | 4/5 arrested disease progression and reversal of vision loss; 2/5 total recovery of visual acuity | [93] |
| Leigh syndrome (n = 10) | 1–13 years | Open-label | 6 months | Reversal of disease progression; Improvement in NPMDS, GMFM, PedsQL Neuromuscular Module (p < 0.05) | [94] |
| Leigh syndrome (n = 35) | 9 months–14 years | Randomized, double-blind, placebo-controlled | 36 months | Decreased rate of hospitalization and serious adverse events | [95] |
| RARS2 deficiency (n = 5) | 5–13 years | Open-label | 1 year | Improved neuromuscular function and redox state; Decreased seizure frequency with 2 patients showing resolution of status epilepticus | [96,97] |
| Friedreich ataxia (n = 31) 1 | 18–66 years | Randomized, double-blind, placebo-controlled | 28 days | Dose-dependent improvement in FARS score; No alteration in Disposition Index (measure of diabetic tendency) | [98] |
| Friedreich ataxia (n = 63) | 19–43 years | Randomized, double-blind, placebo-controlled | 2 years | Dose-dependent improvement in FARS score | [99] |
| Freidreich ataxia (point mutations) (n = 4) | 21–63 years | Open-label | 18 months | Improvement in FARS | [100] |
| Rett syndrome (n = 24) | 2.5–8 years | Open-label | 6 months | Primary endpoint of improvement in Rett syndrome disease severity score not met; Increase in head circumference (p = 0.05); Improved oxygenation, hand function and disease biomarkers in subgroup with greatest degree of head growth | [101] |
| Parkinson disease (n = 10) | 43–69 years | Open-label | 6 months | Improvement in UPDRS Parts II/III; Decrease in brain glutamine/glutamate levels; Improvement of retinal function on electroretinogram | [102] |
1 EPI-A0001 was used in this study, not EPI-743. EPI-A0001 is an α-tocopheryl quinone drug with a chemical structure similar to EPI-743. FARS = Friedreich Ataxia Rating Scale; GMFM = Gross Motor Function Measure; NPMDS = Newcastle Paediatric Mitochondrial Disease Scale; PedsQL = Pediatrics Quality of Life Inventory; UPDRS = Unified Parkinson Disease Rating Scale.